Heather’s Story:
Donate to the FSHD Global Christmas Appeal to help find a Cure!
FSHD Global Research FoundationShane’s Story:
Shane’s Christmas wish is to find a cure for FSHD so that his grandchildren never have to live with this insidious disease
FSHD Global Research FoundationTania’s Story:
Tania is our proud NSW State Branch President, FSHD Global Ambassador & Community Liaison and Administration Assistant. She is full of warmth, positivity and laughter despite going through a tough 12 months.
FSHD Global Research FoundationExciting News!:
Facio Therapies Announcement
FSHD Global Research Foundation2019 Sydney Chocolate Ball:
Save the date!
FSHD Global Research FoundationWyndham Destinations Corporate Surf Challenge 2018:
Wyndham Destinations Corporate Surf Challenge
FSHD Global Research Foundation“Bill Moss the single-minded biotech and a search for a cure” – The Australian:
By Sarah-Jane Tasker - 26th of May 2018
FSHD Global Research FoundationGrant Applications – Now Open:
3D Muscle Printing Biotech Tender
Research, Grant Applications, ScienceStart the New Year with a splash with our new CEO Kate:
Join us in the Cole Classic 1km Swim this February!
Cole Classic, Fundraise, FSHD, Muscles for MusclesA blog by Tracey Jackson:
International Day of People with a Disability 3 December 2017
International Day of People with a Disability, FSHD, Community,FSHD-LEEP Progam:
FACIOSCAPULOHUMERAL DYSTROPHY LIFESTYLE EDUCATION & EXERCISE PROGRAM (FSHD-LEEP)
FSHD, Exercise, CanberraShow your support for FSHD Global Research Foundation:
2017 Charity of the Year in the Australian Charity awards
Charity of the year, Workplace giving, SupportersBill Moss AO on the Alan Jones Breakfast Show:
Chairman Bill Moss AO talks with Alan Jones as the Foundation is announced as the Charity of the Year in the Australian Charity Awards 2017
FSHD Media, Bill Moss AO, Alan Jones2017 Charity of the Year!:
CHARITY OF THE YEAR ANNOUNCED AT THE AUSTRALIAN CHARITY AWARDS 2017
FSHD Global, Awards, Charity of the YearSophie’s Story:
I’m 10 years old and I want to tell you what living with FSHD is like for me.
FSHD, Community Story, Inspiring2017 City2Surf:
Join our team and start fundraising!
Fundraising, How you can help, how to registerThe power of workplace giving:
Start making a difference today
Fundraising, Workplace Giving, How you can help!World FSHD Day:
Get planning for this June 20
World FSHD day, FundraiseBone Health in FSHD:
FSHD Global Research Grant 23 Update
Bone health, FSHD, Grant 23Our Newest Partnership: Australian Opal Cutters & Pearl Divers:
We are a proud charity partner of Australian Opal Cutters & Peal Divers.
Corporate partner, pearlsGet Positive:
Get Positive - A piece by FSHD Patron Justin Reid
Living with FSHDOpen Gardens – Mount Wilson:
FSHD Global is proud to be hosting an open garden this April 29 & 30.
open gardens, Mount Wilson, FSHD GlobalFSHD Global proud to be involved in unique ethical partnership:
Cape York Native Title Holders Partner with Corporate Australia to Establish Economic Empowerment
charity, donations, business, ethical, indigenousFSHD Educational Toolkits:
Getting the support you and your health professionals need
FSHD, consensus, medical guideRare Disease Day:
Awareness is key.
FSHD, RareDiseaseDay, fundraising, awarenessFatigue:
A major issue for FSHD
fatigue, fshd, exercise, physiotherapyReading the science:
How to tell the good from the not so good.
FSHD, facioscapulohumeral muscular dystrophy, publications, scienceFacio-therapies announce breakthrough:
Facio-therapies recently announced a breakthrough development in FSHD drug discovery.
research, science, fshd, facioscapulohumeral dystrophy, biotechExercise & FSHD:
The Latest Study
consensus, FSHD, exerciseWe are proud to be recognised by The Australian Charity Awards:
FSHD Global has been recognised as a Winner for Outstanding Achievement in the Australian Charity Awards 2016.
charity, awards, FSHDShort Story from Daniel Howe – Life with FSHD:
Lavender Blues
FSHD, lavender,Folo – Shopping for Love:
A new way of giving
folo, philanthropy, giving, charity, shoppingA new mechanism for FSHD:
New drug targets
FSHD, D4Z4, Dux 4, scienceSeeking a Volunteer Graphic Designer:
Build your portfolio and make a difference at the same time!
volunteer, graphic designerFSHD Global publishes clinical practice considerations for FSHD:
FSHD Global publishes clinical practice considerations for FSHD
scienceFSHD : It’s not all just about muscles.:
FSHD: It's not just about muscles.
science, muscles, FSHDFSHD stem cells: revolutionising research:
FSHD stem cells: revolutionising research
FSHD Global Research FoundationCRISPR & FSHD:
Harnessing a New Technology
Science, DNAAltering Gene Expression:
New tools with big potential
Science DNATreatments for FSHD:
Small Molecules: Offering hope for people with FSHD
Nature chemical biologyHarnessing a New Technology
CRISPR is a technology that researchers have been embracing with enthusiasm all over the world. Our recent article Altering Gene Expression gives a brief overview of what CRISPR is and how it works. Essentially CRISPR is a way of making targeted changes in the genome or modulating the expression of specific genes and it is being investigated for many biomedical applications. Here we look at the first study using CRISPR in FSHD.
FSHD is an unusually complex disease. The genetic variant thought to be responsible for the condition was described in the early 1990s and the gene DUX4 named as the key culprit. The DUX4 protein activates a host of genes not normally expressed in muscle cells, leading to pathology. In people without FSHD the region of the genome where DUX4 is located is silent. The DNA is wrapped tightly and no genes are being expressed. In FSHD patients, the opposite is true. Recently the Jones laboratory at the University of Massachusetts Medical School published results from their own experiments using CRISPR.(1) In their study they were investigating whether it was possible to use the CRISPR technology to put this area of the genome back to sleep in people with FSHD.
Using a variant of the standard CRISPR tool, the researchers were able to repress DUX4 expression in muscle cells with the FSHD defect. The results from their study showed that CRISPR was able to target the defective genomic region, repress DUX4 expression, and decrease the expression of DUX4 target genes.
This work is an exciting step for treatments that specifically target the genetic defect in FSHD. “Our work represents an important first step towards therapy for FSHD,” said Peter Jones, “and we are continuing to aggressively pursue CRISPR-based applications for FSHD in the hopes of eventually reaching the clinic.”
1. Himeda CL, Jones TI, Jones PL. CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy. 2016;24(3):527-35.